The remainder of this article addresses the key clinical characteristics and pathologic findings on muscle biopsy of selected examples of disorders from 4 different categories of muscle disease: immune-mediated (inflammatory) myopathies, muscular dystrophies, metabolic myopathies, and congenital myopathies. (medscape.com)
To our knowledge, cardiac involvement has not been previously described in this condition, in contrast to other types of congenital myopathies such as nemaline myopathy or core myopathy. (bvsalud.org)
Discussion: These cases with sever bradyarrhythmia in a well know pathology such the XLMTM represents a nuance on the usual differential diagnostics of congenital myopathies. (bvsalud.org)
XLMTM4
Casos clínicos: Presentamos dos casos clínicos de XLMTM que comenzaron con bradicardia sinusal grave o bloqueo auriculoventricular desde los primeros días de vida, con Holter patológico en ambos casos. (bvsalud.org)
Conclusión: Estos casos con bradicardia grave en una patología bien conocida, como la XLMTM, suponen un matiz en el diagnóstico diferencial habitual de las miopatías congénitas. (bvsalud.org)
The X-linked myotubular myopathy (XLMTM) affects males with early-onset symptoms such as muscle weakness, hypotonia, and respiratory distress. (bvsalud.org)
Case reports: We report two clinical cases of XLMTM that started with severe sinus bradycardia or auriculoventricular block from the first days of life, with pathologic 24-hours Holter monitoring in both cases. (bvsalud.org)
Muscle2
Hypotonia is thought to be associated with the disruption of afferent input from stretch receptors and/or lack of the cerebellum's facilitatory efferent influence on the fusimotor system, the system that innervates intrafusal muscle fibers thereby controlling muscle spindle sensitivity. (wikipedia.org)
Introduction: Myotubular myopathy is a congenital muscle disease caused by a mutation in the myotubularin (MTM1) gene. (bvsalud.org)
Severe1
In severe cases, hypotonic infants often have difficulty feeding, as their mouth muscles cannot maintain a proper suck-swallow pattern, or a good breastfeeding latch. (wikipedia.org)
Variety3
Similar vacuoles can be observed in a variety of settings, including glycogen storage disease, colchicine toxic myopathy, critical care myopathy, the periodic paralyses, and technical artifact, among others. (medscape.com)
The pathologist uses a variety of strategies to decide which is the most likely cause of the vacuoles in a given case and to determine whether additional special studies are indicated. (medscape.com)
We employ a variety of experimental systems for our studies ranging from molecular biology to transgenic and knockout mice. (stanford.edu)
Support1
Optimized PE-AAV systems support the highest unenriched levels of in vivo prime editing reported to date, facilitating the study and potential treatment of diseases with a genetic component. (nature.com)
MTM14
In simplex cases (i.e., a single occurrence in a family), there is a probability of 80%-90% that a woman is a carrier if her son has a confirmed MTM1 pathogenic variant. (nih.gov)
Thus, about 10%-20% of males who represent simplex cases have a de novo pathogenic variant in MTM1 and a mother who is not a carrier. (nih.gov)
Introducción: La miopatía miotubular es una enfermedad muscular congénita causada por una mutación en el gen de la miotubularina (MTM1). (bvsalud.org)
Introduction: Myotubular myopathy is a congenital muscle disease caused by a mutation in the myotubularin (MTM1) gene. (bvsalud.org)
Additional2
The pathologist uses a variety of strategies to decide which is the most likely cause of the vacuoles in a given case and to determine whether additional special studies are indicated. (medscape.com)
PMID- 5097502 TI - A pericentric inversion, 5 p-q+, and additional complex rearrangements in a case of cri-du-chat syndrome. (nih.gov)